Canonical Allele Identifier: CA351319925
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1466119890
gnomAD v3: 2-240878819-T-G
gnomAD v4: 2-240878819-T-G
MyVariant Identifiers: chr2:g.241818236T>G (hg19) chr2:g.240878819T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878819T>G , CM000664.2:g.240878819T>G GRCh38
NC_000002.11:g.241818236T>G , CM000664.1:g.241818236T>G GRCh37
NC_000002.10:g.241466909T>G NCBI36
NG_008005.1:g.15075T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1177T>G MANE Select ENSP00000302620.3:p.Ter393Gly
ENST00000307503.3:c.1177T>G ENSP00000302620.3:p.Ter393Gly
ENST00000470255.1:n.955T>G
NM_000030.2:c.1177T>G NP_000021.1:p.Ter393Gly
NM_000030.3:c.1177T>G MANE Select NP_000021.1:p.Ter393Gly
Search 100 bp 5'
Search 100 bp 3'